HsaINT0027162 @ hg19
Intron Retention
Gene
ENSG00000130559 | CAMSAP1
Description
calmodulin regulated spectrin-associated protein 1 [Source:HGNC Symbol;Acc:19946]
Coordinates
chr9:138709823-138710462:-
Coord C1 exon
chr9:138710254-138710462
Coord A exon
chr9:138709926-138710253
Coord C2 exon
chr9:138709823-138709925
Length
328 bp
Sequences
Splice sites
5' ss Seq
CCCGTAAGC
5' ss Score
4.37
3' ss Seq
TCTGTTTCTGTCTCTGGCAGCTG
3' ss Score
10.96
Exon sequences
Seq C1 exon
GCGCAAAGCTGAGGAAGACCGGGTGCGGAAGGAGGAGGAGAAGGCGCGGCGCGAGCTCATCAAGCAGGAGTACCTGCGGAGGAAGCAGCAGCAGATCCTAGAGGAGCAGGGGCTCGGCAAGCCCAAGTCAAAGCCGAAGAAGCCGCGGCCGAAGTCGGTGCACCGGGAAGAGTCGTGCAGCGACTCCGGCACCAAGTGCTCCTCCACCC
Seq A exon
GTAAGCAGCCCCGGCCCTCACGCGGGCAGCGCTTCCTTCCGCGGGCGGCGGCCTCACGTTCTTCAGCTCATTTCAATTTTGTCATCAAGAGTGGTGTGAGGCGGGAAGGGTGGAGATGATTATCCCCGTTTCATGGATGACAATGTTGAGACCAGATGCTCTGAGATGTGCGGCACATCCAGGCGCAGCCCGGCTCCCCGGGATGGGGTGGGGACGCGGCCTGTGTGGCCGAGCTCTGCAGGGCGAGGTGAGGGGAACAGGTACAGGGGACAGGTACTTGTCTGTCGGAATCCGTTCATGAACCGTCGTCTGTTTCTGTCTCTGGCAG
Seq C2 exon
CTGATAACTTGAGCCGGACTCAGTCAGGCTCCAGCCTGTCCTTGGCCTCTGCGGCGACGACAGAACCCGAGAGCGTTCATTCCGGGGGCACACCCTCTCAGCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130559-CAMSAP1:NM_015447:13
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.915 A=NA C2=1.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA

Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCGCAAAGCTGAGGAAGACC
R:
GTGTGCCCCCGGAATGAAC
Band lengths:
302-630
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)